Zaspopathy
Zaspopathy
Zaspopathy (pronounced: zas-po-path-y) is a rare genetic disorder that affects the skeletal muscles. It is characterized by muscle weakness and wasting, primarily affecting the lower limbs.
Etymology
The term "Zaspopathy" is derived from the name of the gene ZASP, which is implicated in the disease, and the Greek word "pathy" meaning disease.
Definition
Zaspopathy is a type of Myofibrillar Myopathy (MFM), a group of neuromuscular diseases characterized by slowly progressive muscle weakness and wasting. The disease is caused by mutations in the ZASP gene, which provides instructions for making a protein that is important for muscle function.
Symptoms
The symptoms of Zaspopathy typically begin in adulthood and progress slowly. They include muscle weakness and wasting, primarily in the lower limbs, and may also include heart problems such as Cardiomyopathy.
Diagnosis
Diagnosis of Zaspopathy is based on clinical symptoms, family history, and genetic testing to identify mutations in the ZASP gene. Muscle biopsy may also be performed to confirm the diagnosis.
Treatment
There is currently no cure for Zaspopathy. Treatment is symptomatic and may include physical therapy, assistive devices for mobility, and management of cardiac symptoms.
Prognosis
The prognosis for individuals with Zaspopathy varies. Some individuals may have a normal lifespan with mild symptoms, while others may experience significant disability due to muscle weakness and heart disease.
See Also
External links
- Medical encyclopedia article on Zaspopathy
- Wikipedia's article - Zaspopathy
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski